Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34059 | 102400;102401;102402 | chr2:178534440;178534439;178534438 | chr2:179399167;179399166;179399165 |
| N2AB | 32418 | 97477;97478;97479 | chr2:178534440;178534439;178534438 | chr2:179399167;179399166;179399165 |
| N2A | 31491 | 94696;94697;94698 | chr2:178534440;178534439;178534438 | chr2:179399167;179399166;179399165 |
| N2B | 24994 | 75205;75206;75207 | chr2:178534440;178534439;178534438 | chr2:179399167;179399166;179399165 |
| Novex-1 | 25119 | 75580;75581;75582 | chr2:178534440;178534439;178534438 | chr2:179399167;179399166;179399165 |
| Novex-2 | 25186 | 75781;75782;75783 | chr2:178534440;178534439;178534438 | chr2:179399167;179399166;179399165 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: K
- RefSeq wild type transcript codon: AAA
- RefSeq wild type template codon: TTT
- Domain: Kinase-1
- Domain position: 247
- Q(SASA): 0.8834
- Predicted PPI site: N
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | rs1690541706  |
None | None | N | None | 0.145 | 0.258283824007 | gnomAD-4.0.0 | 6.84671E-07 | None | None | None | None | N | None | 2.98775E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7998 | likely_pathogenic | 0.6819 | pathogenic | 0.063 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.9382 | likely_pathogenic | 0.9256 | pathogenic | -0.308 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.8775 | likely_pathogenic | 0.8104 | pathogenic | -0.093 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.6673 | likely_pathogenic | 0.51 | ambiguous | -0.091 | Destabilizing | None | None | None | None | N | 0.413768071 | None | None | N |
| K/F | 0.9602 | likely_pathogenic | 0.9301 | pathogenic | -0.176 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.7954 | likely_pathogenic | 0.7236 | pathogenic | -0.111 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.6517 | likely_pathogenic | 0.6175 | pathogenic | -0.29 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.8239 | likely_pathogenic | 0.7215 | pathogenic | 0.442 | Stabilizing | None | None | None | None | N | 0.508046456 | None | None | N |
| K/L | 0.7928 | likely_pathogenic | 0.7216 | pathogenic | 0.442 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.7502 | likely_pathogenic | 0.6599 | pathogenic | 0.089 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/N | 0.8079 | likely_pathogenic | 0.724 | pathogenic | 0.125 | Stabilizing | None | None | None | None | N | 0.451518383 | None | None | N |
| K/P | 0.8453 | likely_pathogenic | 0.7689 | pathogenic | 0.342 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.4348 | ambiguous | 0.3787 | ambiguous | -0.019 | Destabilizing | None | None | None | None | N | 0.464196892 | None | None | N |
| K/R | 0.1591 | likely_benign | 0.1687 | benign | -0.07 | Destabilizing | None | None | None | None | N | 0.453038536 | None | None | N |
| K/S | 0.8257 | likely_pathogenic | 0.7355 | pathogenic | -0.287 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.6348 | likely_pathogenic | 0.4913 | ambiguous | -0.15 | Destabilizing | None | None | None | None | N | 0.455924125 | None | None | N |
| K/V | 0.777 | likely_pathogenic | 0.6808 | pathogenic | 0.342 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.9618 | likely_pathogenic | 0.9503 | pathogenic | -0.244 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.9044 | likely_pathogenic | 0.8623 | pathogenic | 0.111 | Stabilizing | None | None | None | None | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.